Research in rare renal diseases at the University of Malta.
Updated report for Life Cycle Foundation
March 2015
Principal Investigator: Dr Valerie Said Conti
Research Assistant: Ms Esther Zammit
We have two main objectives:
1. To build a rare renal disease collection at the Malta BioBank.
A collection is a number of biological specimens (blood) from individuals with the same
medical condition, which are kept in the BioBank for use in renal research. We have started
this collection from scratch. Each family has to be approached to donate a blood sample,
counselled individually about the scope of this research and what outcomes to expect, and
give their informed consent. We have developed a consent form for our specific use and
have so far banked 100 blood samples from children with rare renal diseases and their close
relatives.
2. To study the genetic material with a view to uncover similar genetic patterns in individuals
with similar conditions.
Each condition needs to be described clearly (phenotype). Once the genetic code (genotype)
is deciphered it will be easier for the medical community to study the disease further and
find new treatments as well as counsel individuals and their families about managing their
condition and about recurrence risks in new offspring.
The conditions we are looking at include congenital nephrotic syndrome (CNS) and congenital
anomalies of the kidney and urinary tract (CAKUT). CNS is a condition which results in protein loss
from the kidney and increases the risk of infection and thrombosis. We have noted a difference in
the severity between affected individuals and we seek an explanation for this. CAKUT are a diverse
group of birth defects resulting from a disturbance in kidney development. We know that many
genes are involved and new ones are being discovered. Understanding what is causing this
disturbance will help us seek preventative and new treatment strategies. Last year we described the
genotype for Bartter’s syndrome, a condition that causes life-threatening salt and water losses from
the kidneys in newborn babies.
Since rare renal disease affects a minority of the population, international collaboration in renal
research is essential for us to reach a critical mass for the research to be significant.
Dr Valerie Said Conti
4th March 2015